Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kathrin Karle"'
Autor:
Mukhran Khundadze, Katrin Kollmann, Nicole Koch, Christoph Biskup, Sandor Nietzsche, Geraldine Zimmer, J Christopher Hennings, Antje K Huebner, Judit Symmank, Amir Jahic, Elena I Ilina, Kathrin Karle, Ludger Schöls, Michael Kessels, Thomas Braulke, Britta Qualmann, Ingo Kurth, Christian Beetz, Christian A Hübner
Publikováno v:
PLoS Genetics, Vol 9, Iss 12, p e1003988 (2013)
Hereditary spastic paraplegias (HSPs) are characterized by progressive weakness and spasticity of the legs because of the degeneration of cortical motoneuron axons. SPG15 is a recessively inherited HSP variant caused by mutations in the ZFYVE26 gene
Externí odkaz:
https://doaj.org/article/605acb884deb4af0b7d161000214be9f
Autor:
Khundadze, Mukhran1, Kollmann, Katrin2, Koch, Nicole3, Biskup, Christoph4, Nietzsche, Sandor5, Zimmer, Geraldine1, Hennings, J. Christopher1 christian.huebner@med.uni-jena.de, Huebner, Antje K.1, Symmank, Judit1, Jahic, Amir6, Ilina, Elena I.7, Karle, Kathrin7,8, Schöls, Ludger7,8, Kessels, Michael3, Braulke, Thomas2, Qualmann, Britta3, Kurth, Ingo1, Beetz, Christian6, Hübner, Christian A.1
Publikováno v:
PLoS Genetics. Dec2013, Vol. 9 Issue 12, p1-16. 16p.
Autor:
Karle, Kathrin N.1,2,3 kathrin.karle@medizin.uni-tuebingen.de, Schüle, Rebecca1,2 rebecca.schuele-freyer@uni-tuebingen.de, Klebe, Stephan4,5 klebe_s@klinik.uni-wuerzburg.de, Otto, Susanne6 s.otto@klinikum-bochum.de, Frischholz, Christian1 christian.frischholz@med.uni-tuebingen.de, Liepelt-Scarfone, Inga2,3 inga.liepelt@uni-tuebingen.de, Schöls, Ludger1,2,3 ludger.schoels@uni-tuebingen.de
Publikováno v:
Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-20. 20p.
Publikováno v:
Medizinische Genetik. Mar2013, Vol. 25 Issue 1, p36-38. 3p.
Autor:
Rehbach, Kristina1,2,3 (AUTHOR), Kesavan, Jaideep1 (AUTHOR), Hauser, Stefan4 (AUTHOR), Ritzenhofen, Swetlana1 (AUTHOR), Jungverdorben, Johannes1,5,6 (AUTHOR), Schüle, Rebecca4,7 (AUTHOR), Schöls, Ludger4,7 (AUTHOR), Peitz, Michael1,5 (AUTHOR), Brüstle, Oliver1 (AUTHOR) brustle@uni-bonn.de
Publikováno v:
Scientific Reports. 7/3/2019, Vol. 9 Issue 1, pN.PAG-N.PAG. 1p.
Autor:
Altmann, Judith, Büchner, Boriana, Nadaj-Pakleza, Aleksandra, Schäfer, Jochen, Jackson, Sandra, Lehmann, Diana, Deschauer, Marcus, Kopajtich, Robert, Lautenschläger, Ronald, Kuhn, Klaus, Karle, Kathrin, Schöls, Ludger, Schulz, Jörg, Weis, Joachim, Prokisch, Holger, Kornblum, Cornelia, Claeys, Kristl, Klopstock, Thomas
Publikováno v:
Journal of Neurology; May2016, Vol. 263 Issue 5, p961-972, 12p
Autor:
Lindig, Tobias, Bender, Benjamin, Hauser, Till-Karsten, Mang, Sarah, Schweikardt, Daniel, Klose, Uwe, Karle, Kathrin N., Schüle, Rebecca, Schöls, Ludger, Rattay, Tim W.
Publikováno v:
Journal of Neurology; Aug2015, Vol. 262 Issue 8, p1961-1971, 11p, 5 Color Photographs
Autor:
Bender, Benjamin, Klose, Uwe, Lindig, Tobias, Biskup, Saskia, Nägele, Thomas, Schöls, Ludger, Karle, Kathrin
Publikováno v:
Journal of Neurology; Dec2014, Vol. 261 Issue 12, p2351-2359, 9p
Publikováno v:
Neurogenetics; May2012, Vol. 13 Issue 2, p169-179, 11p
Autor:
Bauer, Peter, Winner, Beate, Schüle, Rebecca, Bauer, Claudia, Häfele, Veronika, Hehr, Ute, Bonin, Michael, Walter, Michael, Karle, Kathrin, Ringer, Thomas, Rieß, Olaf, Winkler, Jürgen, Schöls, Ludger
Publikováno v:
Neurogenetics; Feb2009, Vol. 10 Issue 1, p43-48, 6p, 1 Color Photograph, 1 Chart, 1 Graph